Variant report

Variant	esv3409366
Chromosome Location	chr2:10090126-10092874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:419)
CpG islands
(count:672)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:10091981-10092024	HepG2	liver:	n/a	n/a
2	ATF3	chr2:10092367-10092770	K562	blood:	n/a	n/a
3	BACH1	chr2:10090910-10091402	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:10091928-10092548	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr2:10091050-10091462	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:10091078-10091363	K562	blood:	n/a	n/a
7	BRCA1	chr2:10092390-10092544	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr2:10091215-10091319	H1-hESC	embryonic stem cell:	n/a	n/a
9	CCNT2	chr2:10090860-10092444	K562	blood:	n/a	chr2:10092345-10092354
10	CEBPB	chr2:10092421-10092710	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr2:10092385-10092730	K562	blood:	n/a	n/a
12	CEBPB	chr2:10092401-10092770	K562	blood:	n/a	n/a
13	CEBPB	chr2:10092488-10092682	K562	blood:	n/a	n/a
14	CEBPD	chr2:10090968-10091418	HepG2	liver:	n/a	n/a
15	CEBPD	chr2:10091474-10092402	HepG2	liver:	n/a	n/a
16	CHD1	chr2:10091220-10091390	GM12878	blood:	n/a	chr2:10091371-10091381
17	CHD2	chr2:10092174-10092321	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr2:10091095-10091874	GM12878	blood:	n/a	chr2:10091738-10091748 chr2:10091371-10091381
19	CHD2	chr2:10091477-10091937	Hela-S3	cervix:	n/a	chr2:10091738-10091748
20	CHD2	chr2:10092128-10092268	HepG2	liver:	n/a	n/a
21	CHD2	chr2:10091673-10091942	K562	blood:	n/a	chr2:10091738-10091748
22	CHD2	chr2:10091060-10091421	K562	blood:	n/a	chr2:10091371-10091381
23	CHD2	chr2:10091049-10091404	HepG2	liver:	n/a	chr2:10091371-10091381
24	CREB1	chr2:10091064-10091386	A549	lung:	n/a	n/a
25	CREB1	chr2:10091427-10092155	A549	lung:	n/a	n/a
26	CTCF	chr2:10091220-10091370	GM12873	blood:	n/a	n/a
27	CTCF	chr2:10091270-10091396	ProgFib	skin:	n/a	n/a
28	CTCF	chr2:10091594-10091595	NHEK	skin:	n/a	n/a
29	CTCF	chr2:10091249-10091404	Fibrobl	skin:	n/a	n/a
30	CTCF	chr2:10091280-10091430	GM12866	blood:	n/a	n/a
31	CTCF	chr2:10091026-10091664	K562	blood:	n/a	n/a
32	CTCF	chr2:10091200-10091350	GM12871	blood:	n/a	n/a
33	CTCF	chr2:10091180-10091330	GM12878	blood:	n/a	n/a
34	CTCF	chr2:10091220-10091370	GM12865	blood:	n/a	n/a
35	CTCF	chr2:10091160-10091310	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr2:10091460-10091610	GM12866	blood:	n/a	n/a
37	CTCF	chr2:10091200-10091350	AG04449	skin:	n/a	n/a
38	CTCF	chr2:10091270-10091347	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:10091200-10091350	HFF	foreskin:	n/a	n/a
40	CTCF	chr2:10091240-10091390	NB4	blood:	n/a	n/a
41	CTCF	chr2:10091160-10091310	GM12874	blood:	n/a	n/a
42	CTCF	chr2:10091220-10091370	HepG2	liver:	n/a	n/a
43	CTCF	chr2:10091248-10091379	GM10266	blood:	n/a	n/a
44	CTCF	chr2:10091233-10091400	GM19240	blood:	n/a	n/a
45	CTCF	chr2:10091327-10091357	GM13976	blood:	n/a	n/a
46	CTCF	chr2:10091160-10091310	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr2:10091280-10091430	GM12865	blood:	n/a	n/a
48	CTCF	chr2:10091180-10091330	Caco-2	colon:	n/a	n/a
49	CTCF	chr2:10091260-10091410	GM12868	blood:	n/a	n/a
50	CTCF	chr2:10091491-10091563	MCF-7	breast:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10091721-10091771	Hepatocyte	liver:	n/a
2	chr2:10091721-10091771	Hepatocyte	liver:	n/a
3	chr2:10091897-10091947	H1-hESC	embryonic stem cell:	embryo
4	chr2:10092403-10092453	HEEpiC	esophagus:	n/a
5	chr2:10091688-10091738	SKMC	muscle:	n/a
6	chr2:10091688-10091738	NH-A	brain:	n/a
7	chr2:10090656-10090706	GM12891	blood:	n/a
8	chr2:10091688-10091738	HCPEpiC	choroid plexus:	n/a
9	chr2:10091665-10091715	K562	blood:	n/a
10	chr2:10090656-10090706	AG04450	lung:	fetal
11	chr2:10091270-10091320	HL-60	blood:	n/a
12	chr2:10091721-10091771	HCM	heart:	n/a
13	chr2:10091688-10091738	Caco-2	colon:	n/a
14	chr2:10091688-10091738	ovcar-3	ovarian:	n/a
15	chr2:10091665-10091715	MCF-7	breast:	n/a
16	chr2:10090974-10091024	CMK	blood:	n/a
17	chr2:10091700-10091750	HCT-116	colon:	n/a
18	chr2:10091665-10091715	CMK	blood:	n/a
19	chr2:10090974-10091024	ProgFib	skin:	n/a
20	chr2:10092455-10092505	T-47D	breast:	n/a
21	chr2:10091721-10091771	ProgFib	skin:	n/a
22	chr2:10092455-10092505	AG09309	skin:	n/a
23	chr2:10091700-10091750	HepG2	liver:	n/a
24	chr2:10090656-10090706	H1-hESC	embryonic stem cell:	embryo
25	chr2:10090974-10091024	RPTEC	kidney:	n/a
26	chr2:10090974-10091024	ovcar-3	ovarian:	n/a
27	chr2:10091721-10091771	NB4	blood:	n/a
28	chr2:10090656-10090706	NT2-D1	testis:	n/a
29	chr2:10091688-10091738	MCF10A-Er-Src	breast:	n/a
30	chr2:10091661-10091711	NHBE	bronchial:	n/a
31	chr2:10091721-10091771	CMK	blood:	n/a
32	chr2:10091721-10091771	HCF	heart:	n/a
33	chr2:10091270-10091320	NHDF-neo	bronchial:	n/a
34	chr2:10091661-10091711	Hepatocyte	liver:	n/a
35	chr2:10091661-10091711	PFSK-1	brain:	n/a
36	chr2:10090656-10090706	NB4	blood:	n/a
37	chr2:10090656-10090706	HRPEpiC	eye:	n/a
38	chr2:10091897-10091947	HUVEC	blood vessel:	n/a
39	chr2:10091688-10091738	ProgFib	skin:	n/a
40	chr2:10091688-10091738	AG10803	skin:	n/a
41	chr2:10091661-10091711	HUVEC	blood vessel:	n/a
42	chr2:10091665-10091715	PANC-1	pancreas:	n/a
43	chr2:10091700-10091750	NHDF-neo	bronchial:	n/a
44	chr2:10091688-10091738	HAEpiC	amniotic membrane:	n/a
45	chr2:10091688-10091738	PFSK-1	brain:	n/a
46	chr2:10092403-10092453	T-47D	breast:	n/a
47	chr2:10091688-10091738	HMEC	breast:	n/a
48	chr2:10091661-10091711	ProgFib	skin:	n/a
49	chr2:10091270-10091320	HEK293	kidney:	embryo
50	chr2:10090656-10090706	HRE	kidney:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10090160..10094173-chr2:10181224..10185885,6	MCF-7	breast:
2	chr2:9938284..9940065-chr2:10092605..10094538,2	MCF-7	breast:
3	chr2:10090078..10091613-chr2:10169348..10171878,2	K562	blood:
4	chr2:9962243..9964669-chr2:10088779..10091216,2	MCF-7	breast:
5	chr2:10085922..10087593-chr2:10089321..10091253,3	K562	blood:
6	chr2:10091367..10094043-chr2:10260841..10262617,2	K562	blood:
7	chr2:10080626..10083275-chr2:10089838..10091585,2	K562	blood:
8	chr2:10091739..10097867-chr2:10098252..10106254,13	K562	blood:
9	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
10	chr2:9932897..9935597-chr2:10092783..10094532,2	MCF-7	breast:
11	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
12	chr2:10090081..10091760-chr2:10195035..10197397,2	K562	blood:
13	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
14	chr2:10089749..10091694-chr2:10096424..10099200,2	K562	blood:
15	chr2:9983066..9987186-chr2:10091615..10095343,4	MCF-7	breast:
16	chr2:10092110..10094474-chr2:10182208..10184991,2	K562	blood:
17	chr2:9777094..9779295-chr2:10091033..10093180,2	MCF-7	breast:
18	chr2:10090511..10093177-chr2:10182491..10184266,3	MCF-7	breast:
19	chr2:9768803..9771575-chr2:10089760..10091656,2	MCF-7	breast:
20	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
21	chr2:10090913..10094433-chr2:10181887..10185131,5	K562	blood:

No data

Variant related genes	Relation type
GRHL1	TF binding region
GRHL1	CpG island
ENSG00000272524	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000134308	chromatin interactions
ENSG00000240687	chromatin interactions
ENSG00000115750	chromatin interactions
ENSG00000134317	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181043316	chr2:10090184-10090185	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs574245196	chr2:10090240-10090241	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs6755289	chr2:10090244-10090245	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563130562	chr2:10090250-10090251	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs374785079	chr2:10090254-10090255	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs150997259	chr2:10090273-10090274	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs551951769	chr2:10090283-10090284	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs565369191	chr2:10090331-10090332	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs527696694	chr2:10090390-10090391	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs547724255	chr2:10090471-10090472	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs369737299	chr2:10090474-10090475	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs140905942	chr2:10090509-10090510	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs536514306	chr2:10090513-10090514	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs561292447	chr2:10090514-10090515	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs1864539	chr2:10090572-10090573	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1864540	chr2:10090591-10090592	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7420081	chr2:10090605-10090606	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs375085182	chr2:10090619-10090620	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs1864541	chr2:10090646-10090647	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs371621746	chr2:10090652-10090653	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs565386935	chr2:10090732-10090733	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs1864542	chr2:10090761-10090762	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554513668	chr2:10090788-10090789	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs574334853	chr2:10090796-10090797	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs543332588	chr2:10090807-10090808	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs556575989	chr2:10090815-10090816	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs576751628	chr2:10090816-10090817	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs545578711	chr2:10090818-10090819	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs149768720	chr2:10090839-10090840	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs60937990	chr2:10090851-10090852	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541083196	chr2:10090862-10090863	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs561369452	chr2:10090922-10090923	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs116444873	chr2:10090925-10090926	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs550622758	chr2:10090967-10090968	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs573047505	chr2:10090972-10090973	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs78204084	chr2:10091038-10091039	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs532176598	chr2:10091126-10091127	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs113074022	chr2:10091144-10091145	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs373505866	chr2:10091194-10091195	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs565451113	chr2:10091209-10091210	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs534747841	chr2:10091222-10091223	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs186108653	chr2:10091301-10091302	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs568094310	chr2:10091323-10091324	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs536632700	chr2:10091372-10091373	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs556904360	chr2:10091379-10091380	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs191008206	chr2:10091381-10091382	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs545640088	chr2:10091382-10091383	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs559162065	chr2:10091418-10091419	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs115898376	chr2:10091422-10091423	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs533381656	chr2:10091448-10091449	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10082000-10090800	Weak transcription	HMEC	breast
2	chr2:10082400-10090200	Weak transcription	Gastric	stomach
3	chr2:10082600-10090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:10084800-10090200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:10085800-10090600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:10086000-10090800	Weak transcription	Pancreas	Pancrea
7	chr2:10086200-10090800	Weak transcription	Right Atrium	heart
8	chr2:10088800-10090800	Enhancers	Spleen	Spleen
9	chr2:10089600-10090200	Flanking Active TSS	HepG2	liver
10	chr2:10089800-10090200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:10089800-10090600	Enhancers	Hela-S3	cervix
12	chr2:10089800-10091000	Enhancers	Lung	lung
13	chr2:10090000-10090400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr2:10090000-10090400	Active TSS	Esophagus	oesophagus
15	chr2:10090000-10090400	Enhancers	Placenta	Placenta
16	chr2:10090000-10090600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:10090000-10090600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:10090000-10090800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr2:10090000-10092800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:10090200-10090400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
21	chr2:10090200-10090600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr2:10090200-10090800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:10090200-10090800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:10090200-10091000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:10090200-10091000	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr2:10090200-10092600	Active TSS	Gastric	stomach
27	chr2:10090400-10090600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr2:10090400-10090600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
29	chr2:10090400-10090600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr2:10090400-10090600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr2:10090400-10090600	Enhancers	Dnd41	blood
32	chr2:10090400-10090800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:10090400-10090800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:10090400-10090800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:10090400-10090800	Flanking Active TSS	Esophagus	oesophagus
36	chr2:10090400-10090800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr2:10090400-10090800	Enhancers	Right Ventricle	heart
38	chr2:10090400-10091000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr2:10090400-10091200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:10090400-10091200	Flanking Active TSS	Placenta	Placenta
41	chr2:10090400-10091200	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr2:10090400-10091400	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr2:10090400-10093000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr2:10090600-10090800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr2:10090600-10090800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr2:10090600-10090800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:10090600-10090800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:10090600-10090800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:10090600-10090800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:10090600-10090800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood

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